Canonical Allele Identifier: CA352174994

Gene: SCN11A

Linked Data

• gnomAD v4: 3-38894864-G-A
• MyVariant Identifiers: chr3:g.38936355G>A (hg19) ; chr3:g.38894864G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38894864G>A , CM000665.2:g.38894864G>A	GRCh38
NC_000003.11:g.38936355G>A , CM000665.1:g.38936355G>A	GRCh37
NC_000003.10:g.38911359G>A	NCBI36
NG_033859.1:g.60698C>T
NG_033859.2:g.162123C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000302328.9:c.2504C>T MANE Select	ENSP00000307599.3:p.Ala835Val
ENST00000668754.1:c.2504C>T	ENSP00000499569.1:p.Ala835Val
ENST00000675223.1:c.2504C>T	ENSP00000502481.1:p.Ala835Val
ENST00000675672.1:c.2504C>T	ENSP00000502446.1:p.Ala835Val
ENST00000675892.1:c.2324C>T	ENSP00000502318.1:p.Ala775Val
ENST00000676045.1:c.2548C>T	ENSP00000501685.1:n.2548C>T
ENST00000676176.1:c.2123C>T	ENSP00000501891.1:p.Ala708Val
ENST00000302328.7:c.2504C>T	ENSP00000307599.3:p.Ala835Val
ENST00000444237.2:c.2504C>T	ENSP00000408028.2:p.Ala835Val
ENST00000456224.7:c.2504C>T	ENSP00000416757.3:p.Ala835Val
NM_001287223.1:c.2504C>T	NP_001274152.1:p.Ala835Val
NM_014139.2:c.2504C>T	NP_054858.2:p.Ala835Val
XM_011533320.1:c.2504C>T	XP_011531622.1:p.Ala835Val
XM_011533321.1:c.1841C>T	XP_011531623.1:p.Ala614Val
XM_011533322.1:c.1052C>T	XP_011531624.1:p.Ala351Val
NM_001349253.1:c.2504C>T	NP_001336182.1:p.Ala835Val
XM_011533321.2:c.1841C>T	XP_011531623.1:p.Ala614Val
XM_017005647.1:c.2879C>T	XP_016861136.1:p.Ala960Val
XM_017005648.1:c.2306C>T	XP_016861137.1:p.Ala769Val
XM_017005650.1:c.2504C>T	XP_016861139.1:p.Ala835Val
XM_017005651.1:c.2231C>T	XP_016861140.1:p.Ala744Val
XM_017005652.1:c.2504C>T	XP_016861141.1:p.Ala835Val
XM_017005653.1:c.908C>T	XP_016861142.1:p.Ala303Val
NM_001349253.2:c.2504C>T MANE Select	NP_001336182.1:p.Ala835Val
NM_014139.3:c.2504C>T	NP_054858.2:p.Ala835Val